The Matchmaker Exchange

A Platform for Rare Disease Gene Discovery

Anthony A. Philippakis, Danielle R. Azzariti, Sergi Beltran, Anthony J. Brookes, Catherine A. Brownstein, Michael Brudno, Han G. Brunner, Orion J. Buske, Knox Carey, Cassie Doll, Sergiu Dumitriu, Stephanie O M Dyke, Johan T. den Dunnen, Helen V. Firth, Richard A. Gibbs, Marta Girdea, Michael Gonzalez, Melissa A. Haendel, Ada Hamosh, Ingrid A. Holm & 18 others Lijia Huang, Matthew E. Hurles, Ben Hutton, Joel B. Krier, Andriy Misyura, Christopher J. Mungall, Justin Paschall, Benedict Paten, Peter N. Robinson, François Schiettecatte, Nara L. Sobreira, Ganesh J. Swaminathan, Peter E. Taschner, Sharon F. Terry, Nicole L. Washington, Stephan L Zuchner, Kym M. Boycott, Heidi L. Rehm

Research output: Contribution to journalArticle

151 Citations (Scopus)

Abstract

There are few better examples of the need for data sharing than in the rare disease community, where patients, physicians, and researchers must search for "the needle in a haystack" to uncover rare, novel causes of disease within the genome. Impeding the pace of discovery has been the existence of many small siloed datasets within individual research or clinical laboratory databases and/or disease-specific organizations, hoping for serendipitous occasions when two distant investigators happen to learn they have a rare phenotype in common and can "match" these cases to build evidence for causality. However, serendipity has never proven to be a reliable or scalable approach in science. As such, the Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API). The core building blocks of the MME have been defined and assembled. Three MME services have now been connected through the API and are available for community use. Additional databases that support internal matching are anticipated to join the MME network as it continues to grow.

Original languageEnglish (US)
Pages (from-to)915-921
Number of pages7
JournalHuman Mutation
Volume36
Issue number10
DOIs
StatePublished - Oct 1 2015

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Genetic Association Studies
Rare Diseases
Databases
Research Personnel
Phenotype
Information Dissemination
Causality
Genotype
Organizations
Genome
Physicians
Research

Keywords

  • GA4GH, IRDiRC
  • Gene discovery
  • Genomic API
  • Matchmaker Exchange
  • Matchmaking
  • Rare disease

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Philippakis, A. A., Azzariti, D. R., Beltran, S., Brookes, A. J., Brownstein, C. A., Brudno, M., ... Rehm, H. L. (2015). The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation, 36(10), 915-921. https://doi.org/10.1002/humu.22858

The Matchmaker Exchange : A Platform for Rare Disease Gene Discovery. / Philippakis, Anthony A.; Azzariti, Danielle R.; Beltran, Sergi; Brookes, Anthony J.; Brownstein, Catherine A.; Brudno, Michael; Brunner, Han G.; Buske, Orion J.; Carey, Knox; Doll, Cassie; Dumitriu, Sergiu; Dyke, Stephanie O M; den Dunnen, Johan T.; Firth, Helen V.; Gibbs, Richard A.; Girdea, Marta; Gonzalez, Michael; Haendel, Melissa A.; Hamosh, Ada; Holm, Ingrid A.; Huang, Lijia; Hurles, Matthew E.; Hutton, Ben; Krier, Joel B.; Misyura, Andriy; Mungall, Christopher J.; Paschall, Justin; Paten, Benedict; Robinson, Peter N.; Schiettecatte, François; Sobreira, Nara L.; Swaminathan, Ganesh J.; Taschner, Peter E.; Terry, Sharon F.; Washington, Nicole L.; Zuchner, Stephan L; Boycott, Kym M.; Rehm, Heidi L.

In: Human Mutation, Vol. 36, No. 10, 01.10.2015, p. 915-921.

Research output: Contribution to journalArticle

Philippakis, AA, Azzariti, DR, Beltran, S, Brookes, AJ, Brownstein, CA, Brudno, M, Brunner, HG, Buske, OJ, Carey, K, Doll, C, Dumitriu, S, Dyke, SOM, den Dunnen, JT, Firth, HV, Gibbs, RA, Girdea, M, Gonzalez, M, Haendel, MA, Hamosh, A, Holm, IA, Huang, L, Hurles, ME, Hutton, B, Krier, JB, Misyura, A, Mungall, CJ, Paschall, J, Paten, B, Robinson, PN, Schiettecatte, F, Sobreira, NL, Swaminathan, GJ, Taschner, PE, Terry, SF, Washington, NL, Zuchner, SL, Boycott, KM & Rehm, HL 2015, 'The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery', Human Mutation, vol. 36, no. 10, pp. 915-921. https://doi.org/10.1002/humu.22858
Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M et al. The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation. 2015 Oct 1;36(10):915-921. https://doi.org/10.1002/humu.22858
Philippakis, Anthony A. ; Azzariti, Danielle R. ; Beltran, Sergi ; Brookes, Anthony J. ; Brownstein, Catherine A. ; Brudno, Michael ; Brunner, Han G. ; Buske, Orion J. ; Carey, Knox ; Doll, Cassie ; Dumitriu, Sergiu ; Dyke, Stephanie O M ; den Dunnen, Johan T. ; Firth, Helen V. ; Gibbs, Richard A. ; Girdea, Marta ; Gonzalez, Michael ; Haendel, Melissa A. ; Hamosh, Ada ; Holm, Ingrid A. ; Huang, Lijia ; Hurles, Matthew E. ; Hutton, Ben ; Krier, Joel B. ; Misyura, Andriy ; Mungall, Christopher J. ; Paschall, Justin ; Paten, Benedict ; Robinson, Peter N. ; Schiettecatte, François ; Sobreira, Nara L. ; Swaminathan, Ganesh J. ; Taschner, Peter E. ; Terry, Sharon F. ; Washington, Nicole L. ; Zuchner, Stephan L ; Boycott, Kym M. ; Rehm, Heidi L. / The Matchmaker Exchange : A Platform for Rare Disease Gene Discovery. In: Human Mutation. 2015 ; Vol. 36, No. 10. pp. 915-921.
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